Variant report

Variant	rs17385493
Chromosome Location	chr4:15502909-15502910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1058412	0.90[MEX][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes]
rs10755215	0.81[ASW][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs10939619	0.91[AMR][1000 genomes]
rs33998592	0.90[AMR][1000 genomes]
rs4698395	0.80[ASW][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes]
rs7675761	0.81[ASW][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17385493	FLJ39653	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15519000	Weak transcription	Gastric	stomach
2	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:15482600-15526400	Weak transcription	HMEC	breast
5	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:15485000-15504800	Weak transcription	Ovary	ovary
7	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
8	chr4:15490400-15519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:15490400-15539600	Weak transcription	Esophagus	oesophagus
10	chr4:15490600-15505000	Weak transcription	Adipose Nuclei	Adipose
11	chr4:15490600-15505200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:15490600-15510600	Weak transcription	Aorta	Aorta
13	chr4:15490600-15519000	Weak transcription	A549	lung
14	chr4:15490800-15504600	Weak transcription	Fetal Kidney	kidney
15	chr4:15491000-15504400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:15491200-15504800	Weak transcription	Osteobl	bone
17	chr4:15491600-15504400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:15491600-15511400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:15491800-15516400	Weak transcription	NHLF	lung
20	chr4:15492200-15503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:15492200-15511000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:15492400-15505000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:15492400-15505200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:15493400-15504400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:15493400-15504800	Weak transcription	Left Ventricle	heart
26	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
27	chr4:15496000-15512800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:15498200-15538400	Weak transcription	Fetal Heart	heart
29	chr4:15499000-15503000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:15499000-15504400	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:15499000-15508200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:15499000-15512800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:15499000-15518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:15499200-15504200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:15499200-15504200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:15499200-15512200	Weak transcription	Brain Anterior Caudate	brain
37	chr4:15499200-15515800	Weak transcription	Liver	Liver
38	chr4:15499400-15504200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:15499600-15516600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:15499600-15528400	Weak transcription	Pancreas	Pancrea
41	chr4:15500200-15503000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:15500200-15516800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:15500400-15506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:15500400-15523200	Weak transcription	NHEK	skin
45	chr4:15501000-15504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:15501400-15509200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:15501400-15511400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:15501400-15525400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:15501600-15506800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:15501600-15519000	Weak transcription	H9 Cell Line	embryonic stem cell

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